A case of atelosteogenesis. Issue 3 (March 1990)

• Record Type: Journal Article
• Authors: Temple, K; Hall, C A; Chitty, L; Baraitser, M
• Is Part Of: Journal of medical genetics. Volume 27:Issue 3(1990)
• Page Start: 194
• Page End: 197
• Publication Date: 1990-03
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.27.3.194
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Atelosteogenesis is a rare chondrodysplasia characterised by rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. The diagnosis is confirmed radiologically: short, distally tapering humeri, absent or hypoplastic fibulae, deficient vertebral ossification with coronal clefting, and anarchic ossification of phalanges are characteristic findings. We report a male child with this condition born to first cousin Bengali parents.